The National Economic Burden of Rare Disease Study conducted on behalf of the EveryLife Foundation for Rare Diseases took a first-of-its-kind look at the economic burden of rare diseases in the United States for the year 2019.

Rare Diseases Have Significant Economic Impact Each Year in the United States

A landmark study released Thursday revealed the economic burden of 379 of the nearly 7,000 known rare diseases totaled an estimated $966 billion in the United States for a single year.

The National Economic Burden of Rare Disease Study conducted on behalf of the EveryLife Foundation for Rare Diseases took a first-of-its-kind look at the economic burden of rare diseases in the United States for the year 2019.

Because the study only examined the financial costs of 379 rare diseases, Annie Kennedy, Chief of Policy and Advocacy at EveryLife Foundation said the research is “only the tip of the iceberg” of the overall economic burden in the rare disease community. In an interview with BioBuzz ahead of the study’s release, Kennedy said it was critical to establish the hard data in order to ensure the conversation can move from “anecdotal evidence to what the actual economic cost of rare disease is.”

The study includes both direct medical costs, as well as indirect costs that affect the families of these patients. Of that $966 billion, $418 billion (43%) was in direct medical costs, while $548 billion (57%) was in indirect costs, the study shows. Direct medical costs include inpatient and outpatient services and prescription medications, while indirect medical costs include employee absenteeism, forced retirement, and healthcare services not covered by insurance.

Kennedy said it was important for this study to show the indirect costs since so many of these are silently borne by the families of the patients. Prior to the study, Kennedy, a longtime advocate for the rare disease community, said they were not surprised the indirect economic burden was higher than the direct costs of rare diseases.

“For families, these are costs that accumulate. This is a one-year snapshot and it doesn’t show the whole picture of living with rare disease,” Kennedy said. “There’s so much more to this story.”

The survey shows that on average, the per-person excess direct medical cost of rare disease is $26,887 more than that for comparison individuals without a rare disease. The average annual direct medical excess cost for a child with a rare disease is $32,037, $29,647 for working-age adults with a rare disease, and $21,772 for rare disease patients age 65 and older.

The highest per-person excess medical cost is for “Lysosomal storage diseases” regardless of the age group. The study shows the cost breakdown at $132,757 for children and $54,996 for adults. The second most expensive rare disease group among children based on per-person excess costs is “Other endocrine or metabolic disorders,” which has an average excess medical cost of $72,285. Among adults, the second most expensive group is “Diseases of the blood and blood-forming organs,” which has an average cost of $52,201.

The estimated total indirect and non-medical cost of rare disease was $548 billion in 2019, with $343 billion to persons with rare diseases and another $205 billion to unpaid caregivers.

To create the study, EveryLife Foundation, a rare disease policy organization based in Washington, D.C., had more than 100 patient organizations work with them to identify data points to collect. The organization conducted a survey of rare disease families and received a response from 3,484 households. Of those, 1,409 (40.4%) completed the survey.

Of those 39 respondents were not included because the name of the disease entered was not considered a rare disease, which is defined by the Orphan Drug Act of 1983 as a condition that affects fewer than 200,000 people in the U.S. The diseases included in the new report include some of the more prevalent rare diseases, such as cystic fibrosis and hemophilia, but also included ultra-rare diseases, Kennedy said.

The National Institutes of Health estimates there are between 25 million and 30 million Americans living with a rare disease. Although it is expected there are about 7,000 rare diseases, only a few in the U.S. are actually tracked with International Classification of Diseases (ICD) codes.  

That lack of ICD codes is a significant issue Kennedy and the rare disease community hope to address. Currently, only about 500 rare diseases have such codes. That lack of codes for the other 6,500 rare diseases makes diagnostics, access to care, and therapeutics difficult, Kennedy said.

On Thursday, Kennedy and her team released the data during a high-level presentation with the Rare Disease Caucus in the U.S. House of Representatives. Ahead of the meeting, she said she planned to go into detail about the economic burdens in hopes of incentivizing biomedical investment from the U.S. government, particularly the NIH and the U.S. Food and Drug Administration.

“We really need to begin to drive funding and policy to better align with the public health impact of rare disease,” Kennedy said. “The funding prioritization for rare disease does not meet what’s going on with pharma, the NIH, the FDA and others.”

Although the rare disease community in the U.S. has traditionally enjoyed bipartisan support from Congress, Kennedy said she hopes this economic data impact study will spur more support for the community. Next week, rare disease advocates from across the country, armed with the economic impact data, will meet with members of Congress in hopes of appropriating the authorization for the appropriate funding levels needed in rare disease. Kennedy said the 2019 economic snapshot will serve as a springboard for the community.

“We’re only getting started,” she said.

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Alex Keown is a freelance journalist who writes about a variety of subjects including the pharma, biotech, and life science industries. Prior to freelancing, Alex has served as a staff writer and editor for several publications.